Joanna Szyda

The Role of the Bovine Growth Hormone Receptor and Prolactin Receptor Genes in Milk, Fat and Protein Production in Finnish Ayrshire Dairy Cattle

We herein report new evidence that the QTL effect on chromosome 20 in Finnish Ayrshire can be explained by variation in two distinct genes, growth hormone receptor (GHR) and prolactin receptor (PRLR). In a previous study in Holstein–Friesian dairy cattle an F279Y polymorphism in the transmembrane domain of GHR was found to be associated with an effect on milk yield and composition. The result of our multimarker regression analysis suggests that in Finnish Ayrshire two QTL segregate on the chromosomal region including GHR and PRLR. By sequencing the coding sequences of GHR and PRLR and the sequence of three GHR promoters from the pooled samples of individuals of known QTL genotype, we identified two substitutions that were associated with milk production traits: the previously reported F-to-Y substitution in the transmembrane domain of GHR and an S-to-N substitution in the signal peptide of PRLR. The results provide strong evidence that the effect of PRLR S18N polymorphism is distinct from the GHR F279Y effect. In particular, the GHR F279Y has the highest influence on protein percentage and fat percentage while PRLR S18N markedly influences protein and fat yield. Furthermore, an interaction between the two loci is suggested.

Detection of quantitative trait loci for meat quality in a commercial slaughter pig cross

Abstract. The primary goal of this study was to localize quantitative trait loci (QTL) affecting meat quality traits in swine. In total, 42 traits were scored on 305 F2 individuals from a commercial slaughter pig cross in Norway. F1 and F2 individuals were genotyped for 29 markers on Chromosomes (Chrs) 4, 6, and 7, since previous studies had revealed QTL affecting meat quality traits on these chromosomes. The most evident result was detection of a QTL affecting amount of intramuscular fat on Chr 6. The QTL might also influence tenderness, whereas no effect was observed for back-fat thickness. Additionally, suggestive evidence for QTL affecting other meat quality traits was found on Chr 4 and Chr 7.

Evidence for Heterogeneity in Recombination in the Human Pseudoautosomal Region: High Resolution Analysis by Sperm Typing and Radiation-Hybrid Mapping

Accurate genetic and physical maps for the human pseudoautosomal region were constructed by use of sperm typing and high-resolution radiation-hybrid mapping. PCR analysis of 1,912 sperm was done with a manual, single-sperm isolation method. Data on four donors show highly significant linkage heterogeneity among individuals. The most significant difference was observed in a marker interval located in the middle of the Xp/Yp pseudoautosomal region, where one donor showed a particularly high recombination fraction. Longitudinal models were fitted to the data to test whether linkage heterogeneity among donors was significant for multiple intervals across the region. The results indicated that increased recombination in particular individuals and regions is compensated for by reduced recombination in neighboring intervals. To investigate correspondence between physical and genetic distances within the region, we constructed a high-resolution radiation-hybrid map containing 29 markers. The recombination fraction per unit of physical distance varies between regions ranging from 13- to 70-fold greater than the genome-average rate.

Multivariate mixed inheritance models for QTL detection on porcine chromosome 6

A series of multivariate mixed-inheritance models is fitted to the data from an outbred-line pig cross commercially used in Norway. Each model accommodates information on polygenic (co)variances between F2 individuals and their F1 parents across the five traits through incorporation of a random animal effect. Considered traits relate to meat quality and are chosen following up the results from a previous evaluation, in which a putative quantitative trait locus (QTL) was identified on chromosome six that affects the amount of intramuscular fat (IMF), meat percentage, meat tenderness and smell intensity (Grindflek et al., 2001). An additional trait included in the model, based on results of other studies, is the backfat thickness. The analysed material comprises data scored for 305 F2 individuals, whereas marker information is available for F1 and F2 generations. Based on the results of the multivariate analysis with the mixed-inheritance model, it was possible to conclude that the evidence for QTLs for meat percentage, meat tenderness and smell intensity in the study of Grindflek et al. (2001) do not represent separate QTLs, but is caused by the fact that the applied pre-adjustment of trait values for polygenic effects failed properly to remove the polygenic variation. The QTL effect on IMF on chromosome six was confirmed.

Testing candidate gene effects on milk production traits in dairy cattle under various parameterizations and modes of inheritance

The major objectives of this study were 1) to assess the statistical properties of models commonly used for the estimation of single nucleotide polymorphism (SNP) effects under the assumption of various modes of inheritance and various parameterizations of SNP genotypes using simulated data, and 2) to compare effects of the selected polymorphisms located within butyrophilin (BTN1A1), diacylglycerol acyltransferase 1 (DGAT1), leptin (LEP), and leptin receptor (LEPR) candidate genes on milk production traits using data from 2 dairy cattle breeds (190 Jersey cows and 475 Polish Holstein-Friesian cows). Simulation results showed that type I error and power were not dependent on the assumed parameterization, but differences were observed regarding confidence intervals of estimated SNP effects. In the presence of epistasis, correct confidence intervals for all (epistatic and nonepistatic) SNP and all modes of inheritance were provided only by the parameterization proposed by C. H. Kao and Z. B. Zeng in 2002. However, if no dominance effect was included in the model, confidence intervals for SNP effects were correct for all parameterizations. Results based on real data showed that for both breeds the additive effects of polymorphisms were generally similar, except for LEPR, which had a different allele associated with increased fat content in Holstein-Friesians than in Jerseys. In both breeds, DGAT1 had the largest additive effect of the polymorphisms considered, but its effect on most milk traits was more pronounced in Jerseys than in Holstein-Friesians. Evidence of epistasis was found between LEPR and DGAT1, as well as between LEPR and BTN1A1, but only for milk content traits and only in the Holstein-Friesian breed. There was also more evidence for dominance in the Holstein-Friesian breed than in the Jersey breed.

Evaluating markers in selected genes for association with functional longevity of dairy cattle

BackgroundLongevity expressed as the number of days between birth and death is a trait of great importance for both human and animal populations. In our analysis we use dairy cattle to demonstrate how the association of Single Nucleotide Polymorphisms (SNPs) located within selected genes with longevity can be modeled. Such an approach can be extended to any genotyped population with time to endpoint information available. Our study is focused on selected genes in order to answer the question whether genes, known to be involved into the physiological determination of milk production, also influence individuals survival.ResultsGenerally, the highest risk differences among animals with different genotypes are observed for polymorphisms located within the leptin gene. The polymorphism with a highest effect on functional longevity is LEP-R25C, for which the relative risk of culling for cows with genotype CC is 3.14 times higher than for the heterozygous animals. Apart from LEP-R25C, also FF homozygotes at the LEP-Y7F substitution attribute 3.64 times higher risk of culling than the YY homozygotes and VV homozygotes at LEP-A80V have 1.83 times higher risk of culling than AA homozygotes. Differences in risks between genotypes of polymorphisms within the other genes (the butyrophilin subfamily 1 member A1 gene, BTN1A1; the acyl-CoA:diacylglycerol acyltransferase 1 gene, DGAT1; the leptin receptor gene, LEPR; the ATP-binding cassette sub-family G member 2, ABCG2) are much smaller.ConclusionsOur results indicate association between LEP and longevity and are very well supported by results of other studies related to dairy cattle. In view of the growing importance of functional traits in dairy cattle, LEP polymorphisms should be considered as markers supporting selection decisions. Furthermore, since the relationship between both LEP polymorphism and its protein product with longevity in humans is well documented, with our result we were able to demonstrate that livestock with its detailed records of family structure, genetic, and environmental factors as well as extensive trait recording can be a good model organism for research aspects related to humans.

Sex ratio distortion in bovine sperm correlates to recombination in the pseudoautosomal region.

A total of 2122 single sperm from 35 bulls belonging to six different paternal half-sib groups were analysed with respect to two markers in the bovine pseudoautosomal region (PAR) and sex-specific loci on the X and Y chromosomes, respectively. A segregation ratio significantly different from 1:1 was observed in a test over all families, with a higher proportion of X-bearing gametes (53.5%). The analysis of recombination conducted separately for X- and Y-bearing sperm showed that X-bearing sperm cells possess highly significant individual and between-family variability in recombination rate, whereas Y-bearing sperm show linkage homogeneity. To test whether the two phenomena are related, different logistic regression models were fitted to the data. The results show that sex ratio significantly correlates with changes in recombination rate among X-bearing but not among Y-bearing sperm. Different hypotheses to explain these observations are discussed.

Review of alignment and SNP calling algorithms for next-generation sequencing data.

Application of the massive parallel sequencing technology has become one of the most important issues in life sciences. Therefore, it was crucial to develop bioinformatics tools for next-generation sequencing (NGS) data processing. Currently, two of the most significant tasks include alignment to a reference genome and detection of single nucleotide polymorphisms (SNPs). In many types of genomic analyses, great numbers of reads need to be mapped to the reference genome; therefore, selection of the aligner is an essential step in NGS pipelines. Two main algorithms—suffix tries and hash tables—have been introduced for this purpose. Suffix array-based aligners are memory-efficient and work faster than hash-based aligners, but they are less accurate. In contrast, hash table algorithms tend to be slower, but more sensitive. SNP and genotype callers may also be divided into two main different approaches: heuristic and probabilistic methods. A variety of software has been subsequently developed over the past several years. In this paper, we briefly review the current development of NGS data processing algorithms and present the available software.

Genome-wide association study for semen production traits in Holstein-Friesian bulls

Identifying genomic regions, particularly individual genes associated with semen quality traits, may be very important for improving sire fertility via selective breeding. The aim of the study was to estimate (co)variance components and effects of single nucleotide polymorphisms (SNP) from the Illumina BovineSNP50 BeadChip (Illumina, San Diego, CA) on semen production traits and to find candidate genes for these traits. The analyzed data set originates from the Polish Holstein-Friesian dairy cattle population and consists of 1,212 bulls kept at 4 artificial insemination stations. For each bull, 5 semen production traits were collected: sperm concentration, semen volume, number of spermatozoa, motility, and motility score. A multitrait mixed model was used to estimate genetic parameters. The parameters obtained were used to estimate SNP effects for each trait separately by the mixed model, which is used in the Polish direct genomic value project. Additionally, genes located in the vicinity of significant SNP were selected as candidate genes. For motility, 20 genome-wide significant SNP, located on 12 autosomes, were identified. For sperm concentration, we found 7 significant SNP: 3 on chromosome X, and 1 on chromosomes 1, 6, 23, and 24. For semen volume and motility score, 3 and 1 significant SNP were detected, respectively. All these SNP were located on chromosome X. For the number of spermatozoa, 12 significant SNP were observed. Six SNP were located on chromosome X, 3 on chromosome 8, and 1 on chromosomes 2, 7, and 16. This study clearly indicated a key role of the X chromosome in the determination of semen quality and emphasized that including such traits into genetic evaluation should be strongly considered.

Parity-dependent association between TNF-α and LTF gene polymorphisms and clinical mastitis in dairy cattle

BackgroundOne major problem in dairy cattle husbandry is the prevalence of udder infections. In today’s breeding programmes, top priority is being given to making animal evaluation more cost-effective and reliable and less time-consuming. We proposed tumor necrosis factor α (TNF-α), lactoferrin (LTF) and macrophage-expressed lysozyme (mLYZ) genes as potential DNA markers in the improvement of immunity to mastitis.This study included 588 Polish Holstein-Friesian cows kept on one farm located in the north-western region of Poland. All clinical cases of mastitis in the herd under study were recorded by a qualified veterinarian employed by the farm. The following indicators were applied to determine udder immunity to mastitis in the cows under study: morbidity rate (MR), duration of mastitis (DM) and extent of mastitis (EM). TNF-α, mLYZ and LTF genotypes were identified by real-time PCR method, using SimpleProbe technology. Due to the very low frequency of mLYZ allele T, the gene was excluded from further analysis.A statistical analysis of associations between TNF-α and LTF genes and immunity to mastitis were performed using three models: 1) a parity-averaged model including only additive effects of the genes; 2) a parity-averaged model including both additive and epistatic effects of the genes; and 3) a parity-specific model including only additive effects of the genes.ResultsWith the first and second models it was revealed that the genes effects on the applied indicators of immunity to mastitis were non-significant whereas with the third one the effects were found to be statistically significant. Particularly noteworthy was the finding that the effects of TNF-α and LTF varied depending on age (parity). The alleles which were linked to high immunity to mastitis in lower parities appeared to be less favourable in higher parities.ConclusionsThese interactions might be related to inflamm-ageing, that is an increased susceptibility to infection due to immune system deregulation that progresses with age. Such pattern of interactions makes it impossible to use the genes in question in marker-assisted selection aimed at reducing heritable susceptibility to mastitis. This is because the immune mechanisms behind resistance to infections proved to be too complex.